Canonical Allele Identifier: CA413873987

Gene: SERPINA7

Linked Data

• dbSNP Id: rs2041423594
• gnomAD v3: X-106033537-A-T
• gnomAD v4: X-106033537-A-T
• MyVariant Identifiers: chrX:g.105277528A>T (hg19) ; chrX:g.106033537A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.106033537A>T , CM000685.2:g.106033537A>T	GRCh38
NC_000023.10:g.105277528A>T , CM000685.1:g.105277528A>T	GRCh37
NC_000023.9:g.105164184A>T	NCBI36
NG_021252.1:g.10191T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372563.2:c.1211T>A MANE Select	ENSP00000361644.1:p.Leu404His
ENST00000327674.8:c.1211T>A	ENSP00000329374.4:p.Leu404His
ENST00000372563.1:c.1211T>A	ENSP00000361644.1:p.Leu404His
NM_000354.5:c.1211T>A	NP_000345.2:p.Leu404His
XM_006724683.1:c.1241T>A	XP_006724746.1:p.Leu414His
XM_005262180.4:c.*156T>A	XP_005262237.1:n.*156T>A
XM_006724683.2:c.1241T>A	XP_006724746.1:p.Leu414His
NM_000354.6:c.1211T>A MANE Select	NP_000345.2:p.Leu404His